HGVS | Genome Assembly |
---|---|
NC_000006.12:g.34762660G>A , CM000668.2:g.34762660G>A | GRCh38 |
NC_000006.11:g.34730437G>A , CM000668.1:g.34730437G>A | GRCh37 |
NC_000006.10:g.34838415G>A | NCBI36 |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000244520.10:c.117G>A MANE Select | ENSP00000244520.5:p.Gln39= | |
ENST00000244520.9:c.117G>A | ENSP00000244520.5:p.Gln39= | |
ENST00000374017.3:c.180G>A | ENSP00000363129.3:p.Gln60= | |
ENST00000374018.5:c.-7G>A | ENSP00000363130.1:n.-7G>A | |
ENST00000474635.1:n.109G>A | ||
NM_003093.2:c.117G>A | NP_003084.1:p.Gln39= | |
NR_029472.1:n.524G>A | ||
NM_003093.3:c.117G>A MANE Select | NP_003084.1:p.Gln39= | |
NR_029472.2:n.113G>A |